rs9295592
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000690652.2(ENSG00000289368):n.211-60373A>G variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.549 in 151,948 control chromosomes in the GnomAD database, including 23,138 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LOC105374976 | XR_001744046.2 | n.401-60373A>G | intron_variant, non_coding_transcript_variant | ||||
LOC105374976 | XR_007059501.1 | n.379-60373A>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000690652.2 | n.211-60373A>G | intron_variant, non_coding_transcript_variant | |||||||
ENST00000700866.1 | n.181-60373A>G | intron_variant, non_coding_transcript_variant | |||||||
ENST00000702216.1 | n.203-60373A>G | intron_variant, non_coding_transcript_variant | |||||||
ENST00000702386.1 | n.200-60373A>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.549 AC: 83306AN: 151830Hom.: 23105 Cov.: 31
GnomAD4 genome AF: 0.549 AC: 83394AN: 151948Hom.: 23138 Cov.: 31 AF XY: 0.545 AC XY: 40479AN XY: 74260
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at